Lista de obras - Brett H Graham - Dominio Público Uruguay

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

artículo científico publicado en 2010

6q22.1 microdeletion and susceptibility to pediatric epilepsy.

artículo científico publicado en 2014

A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator

artículo científico publicado en 1997

Activin signaling: effects on body composition and mitochondrial energy metabolism

scientific article published on 23 April 2009

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience

artículo científico publicado en 2012

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

artículo científico publicado en 2015

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

artículo científico publicado en 2016

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

artículo científico publicado en 2015

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

artículo científico publicado en 2013

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

artículo científico publicado en 2013

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44

artículo científico publicado en 2011

Diagnostic Challenges of Mitochondrial Disorders: Complexities of Two Genomes ⬇️

artículo científico publicado el 1 de enero de 2012

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

artículo científico publicado en 2015

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.

artículo científico publicado en 2013

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

artículo científico publicado en 2015

Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.

artículo científico publicado en 2016

Expression and sequence analysis of the mouse adenine nucleotide translocase 1 and 2 genes.

artículo científico publicado en 2000

Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance

artículo científico publicado en 2007

Genetic approaches to analyzing mitochondrial outer membrane permeability.

artículo científico publicado en 2004

Genetic strategies for dissecting mammalian and Drosophila voltage-dependent anion channel functions.

artículo científico publicado en 2008

Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration

artículo científico publicado en 2015

Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress

artículo científico publicado en 2015

Increased COUP-TFII expression in adult hearts induces mitochondrial dysfunction resulting in heart failure.

artículo científico publicado en 2015

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis

artículo científico publicado en 2007

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.

artículo científico publicado en 2016

Marked changes in mitochondrial DNA deletion levels in Alzheimer brains

scientific article published on 01 September 1994

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

artículo científico publicado en 2010

Measurement of mitochondrial oxygen consumption using a Clark electrode

artículo científico publicado en 2012

Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients

artículo científico publicado en 1996

Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production

artículo científico publicado en 2014

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

artículo científico publicado en 2014

Mitochondrial voltage-dependent anion channel gene family in Drosophila melanogaster: complex patterns of evolution, genomic organization, and developmental expression

artículo científico publicado en 2005

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

artículo científico publicado en 2013

Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance

artículo científico publicado en 2013

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

artículo científico publicado en 2012

Myokine mediated muscle-kidney crosstalk suppresses metabolic reprogramming and fibrosis in damaged kidneys

artículo científico publicado en 2017

Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease

artículo científico publicado en 2010

Noninvasive, in vivo approaches to evaluating behavior and exercise physiology in mouse models of mitochondrial disease

artículo científico publicado en 2002

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.

artículo científico publicado en 2012

Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse

artículo científico publicado en 2017

Phenotypic expansion in - a common cause of intellectual disability in females

artículo científico publicado en 2018

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

artículo científico publicado en 2015

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

artículo científico publicado en 2016

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

scientific journal article

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

artículo científico publicado en 2009

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

artículo científico publicado en 2008

Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia

artículo científico publicado en 2016

Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.

artículo científico publicado en 2013

Sox9 and NFIA coordinate a transcriptional regulatory cascade during the initiation of gliogenesis

artículo científico publicado en 2012

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

artículo científico publicado en 2010

The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit ⬇️

artículo científico publicado el 18 de marzo de 2013

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

artículo científico publicado en 2016

The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism

artículo científico

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

artículo científico publicado en 2016

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle

artículo científico publicado en 2008

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

artículo científico publicado en 2016

Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects ⬇️

artículo científico publicado el 2 de abril de 2013

Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family

artículo científico publicado en 2008

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

artículo científico publicado en 2017

Voltage-dependant anion channels: novel insights into isoform function through genetic models.

artículo científico

Lista de obras de Brett H Graham

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

6q22.1 microdeletion and susceptibility to pediatric epilepsy.

A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator

Activin signaling: effects on body composition and mitochondrial energy metabolism

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44

Diagnostic Challenges of Mitochondrial Disorders: Complexities of Two Genomes ⬇️

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.

Expression and sequence analysis of the mouse adenine nucleotide translocase 1 and 2 genes.

Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance

Genetic approaches to analyzing mitochondrial outer membrane permeability.

Genetic strategies for dissecting mammalian and Drosophila voltage-dependent anion channel functions.

Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration

Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress

Increased COUP-TFII expression in adult hearts induces mitochondrial dysfunction resulting in heart failure.

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis

Lessons learned from additional research analyses of unsolved clinical exome cases

Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.

Marked changes in mitochondrial DNA deletion levels in Alzheimer brains

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

Measurement of mitochondrial oxygen consumption using a Clark electrode

Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients

Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

Mitochondrial voltage-dependent anion channel gene family in Drosophila melanogaster: complex patterns of evolution, genomic organization, and developmental expression

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

Myokine mediated muscle-kidney crosstalk suppresses metabolic reprogramming and fibrosis in damaged kidneys

Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease

Noninvasive, in vivo approaches to evaluating behavior and exercise physiology in mouse models of mitochondrial disease

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.

Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse

Phenotypic expansion in - a common cause of intellectual disability in females

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia

Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.

Sox9 and NFIA coordinate a transcriptional regulatory cascade during the initiation of gliogenesis

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit ⬇️

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects ⬇️

Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Voltage-dependant anion channels: novel insights into isoform function through genetic models.